RGD:401743912 Rat Genome Database

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Variant: RGD:401743912 -  Homo sapiens

RGD ID: 401743912
ClinVar ID: CV2688056
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BHMT  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 78,407,727
GRCh38 5 79,111,904
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.9:g.78407727A>C
NM_001713.2:c.19A>C
NP_001704.2:p.Lys7Gln
NM_001713.3:c.19A>C
More... 		03/22/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BHMT
Accession:NM_001713
Location:EXON
Amino Acid Prediction: K to Q (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPVGGQKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLHREFLRAGSNVMQTFTFYASE
DKLENRGNYVLEKISGQEVNEAACDIARQVADEGDALVAGGVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEY
FEHVEEAVWAVETLIASGKPVAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARL
KAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRAIAEELAPERGF
LPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASGRPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEK
QKFKSQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004305123 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BHMT CLINVAR
OMIM 602888 CLINVAR